SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS113717721 MCIDAS Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Inborn genetic diseases
RS113718290 ARID1A Health Risk Conflicting classifications of pathogenicity Marfanoid habitus and intellectual disability, Intellectual disability
RS113721547 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS113721676 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS113722038 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS113726158 DSP Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS11373 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS113731555 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS113732809 FRAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Fraser syndrome 1
RS113736090 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, GLDC-related disorder
RS113739104 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS113742238 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS113742728 C3 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Complement component 3 deficiency
RS113745536 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, LAMB3-related disorder
RS113746582 MEAK7 Health Risk Conflicting classifications of pathogenicity —
RS113747896 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 8, TMPRSS3-related disorder
RS113752862 RPL35A Health Risk Likely pathogenic Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5
RS113755498 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS113756713 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS113758103 TAT Health Risk Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS113759732 TPM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS113760892 OBSCN Health Risk Conflicting classifications of pathogenicity OBSCN-related disorder, OBSCN-related disorder
RS113760990 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1137617 KCNH2 Health Risk Pathogenic Long QT syndrome, Ovarian serous cystadenocarcinoma
RS113767658 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS113768282 EPB42 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS113768654 F5 Health Risk Conflicting classifications of pathogenicity Congenital factor V deficiency, Inborn genetic diseases
RS113772629 TULP1 Health Risk Conflicting classifications of pathogenicity —
RS113773415 FSIP2 Health Risk Conflicting classifications of pathogenicity —
RS113777932 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS113777945 AKT1 Health Risk Conflicting classifications of pathogenicity Cowden syndrome 6, Cowden syndrome 6
RS113782060 MRPL44 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS113782618 C3 Health Risk Likely pathogenic Complement component 3 deficiency, Complement component 3 deficiency
RS113783861 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS113785045 LAMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMC3-related disorder
RS113785794 CDH2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS113786411 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS113786548 TGFBR1 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 1, Familial thoracic aortic aneurysm and aortic dissection
RS113786762 TGFBR2 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1137887 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS113794264 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS113794453 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS113802539 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve
RS113803100 NTN4 Health Risk Conflicting classifications of pathogenicity —
RS113803159 ATP2A1 Health Risk Conflicting classifications of pathogenicity Brody myopathy, ATP2A1-related disorder
RS113803353 TMPRSS6 Health Risk Conflicting classifications of pathogenicity Microcytic anemia, TMPRSS6-related disorder
RS113803601 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS113804402 LRP5 Health Risk Conflicting classifications of pathogenicity 6 conditions, LRP5-related disorder
RS113808353 LRRC56 Health Risk Conflicting classifications of pathogenicity —
RS113809568 VLDLR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS113811959 OPTN Health Risk Conflicting classifications of pathogenicity Primary open angle glaucoma, Amyotrophic lateral sclerosis type 12
RS113812219 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS113812345 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS113812662 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS113813309 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Inborn genetic diseases
RS113813525 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS113814258 VWF Health Risk Conflicting classifications of pathogenicity von Willebrand disease type 3, von Willebrand disease type 1
RS113817720 SERPINA1 Health Risk Pathogenic Alpha-1-antitrypsin deficiency, SERPINA1-related disorder
RS113817827 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS113818201 PLIN4 Health Risk Conflicting classifications of pathogenicity —
RS113820929 MYPN Health Risk Likely pathogenic Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK
RS113823160 GATA5 Health Risk Conflicting classifications of pathogenicity GATA5-related disorder, GATA5-related disorder
RS113824905 PSAT1 Health Risk Conflicting classifications of pathogenicity Neu-Laxova syndrome 2, PSAT deficiency
RS113826825 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS113828929 COL6A2 Health Risk Pathogenic Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A
RS113829803 TNS2 Health Risk Conflicting classifications of pathogenicity Thyroid cancer, nonmedullary
RS113829901 RFT1 Health Risk Conflicting classifications of pathogenicity RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
RS113837859 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS113840224 SUCLG1 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9
RS113842781 DBT Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS113843907 COLQ Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 5, See cases
RS113846383 TRMU Health Risk Conflicting classifications of pathogenicity Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS113847452 COL18A1 Health Risk Pathogenic Knobloch syndrome, Knobloch syndrome
RS113847665 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS113848347 MYH8 Health Risk Conflicting classifications of pathogenicity Hecht syndrome, Hecht syndrome
RS113849804 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Generalized juvenile polyposis/juvenile polyposis coli
RS113852309 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS113856002 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS113857788 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS113860402 RRM2B Health Risk Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
RS113861754 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS113863223 ZMIZ1 Health Risk Likely pathogenic —
RS113867661 PLK4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS113870721 FCSK Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation with defective fucosylation 2, Congenital disorder of glycosylation with defective fucosylation 2
RS113871094 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS113871730 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS113872601 CRYBB3 Health Risk Conflicting classifications of pathogenicity Cataract 22 multiple types, Inborn genetic diseases
RS113874709 PRPF8 Health Risk Conflicting classifications of pathogenicity —
RS113876817 TNNT2 Health Risk Conflicting classifications of pathogenicity TNNT2-related disorder, Cardiomyopathy
RS113877354 GNAS Health Risk Pathogenic —
RS113878846 KIF21A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KIF21A-related disorder
RS113879010 AGXT Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
RS113879661 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS113882528 PI4KA Health Risk Conflicting classifications of pathogenicity Polymicrogyria, perisylvian
RS113886269 GABRA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS113887538 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS113891837 CTR9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CTR9-related disorder
RS113895168 PROM1 Health Risk Conflicting classifications of pathogenicity Retinal macular dystrophy type 2, Retinitis pigmentosa
RS113896755 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS113897548 PLP1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Hereditary spastic paraplegia 2
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